Contents:
- Medical Video: Lactose intolerance - causes, symptoms, diagnosis, treatment & pathology
- What is galactosemia?
- What are the causes of galactosemia?
- Who is at risk for galactosemia?
- What are the symptoms of galactosemia?
- What are the complications of galactosemia?
- How is galactosemia diagnosed?
- How to treat galactosemia?
Medical Video: Lactose intolerance - causes, symptoms, diagnosis, treatment & pathology
Before you decide to have children, you should check your family history of galactosemia. If present, your child may be at risk for this condition.
What is galactosemia?
Galactosemia is a condition that prevents you from digesting galactose, a simple sugar found in dairy products. Galactosemia means too much galactose in the blood that is not being used. This is a genetic disorder inherited in the family.
When you digest milk products, lactose is divided into galactose and glucose. People with galactosemia cannot tolerate any form of milk (human or animal). They must be careful of other foods containing galactose. Your body may have too much galactose accumulated in the blood and can cause serious health problems if left untreated.
If babies with galactosemia are given milk, substances made from galactose accumulate in the baby's system. These substances damage the liver, brain, kidneys and eyes. If left untreated, as many as 75% of babies with galactosemia will not survive.
Various types of galactosemia include:
- Classic and clinical variants of galactosemia (aka Type 1 galactosemia): a rare genetic metabolic disorder.
- Duarte galactosemia variant: much more common than classical or clinical galactosemia variants in many populations.
- Galactokinase deficiency (aka type 2 galactosemia)
- Epimerase deficiency (aka Type 3 galactosemia).
What are the causes of galactosemia?
This condition is inherited from parents. Children with galactosemia get gene mutations from their parents, but parents may not have these conditions. It is said that each parent carries one copy of the gene that causes galactosemia and this condition is inherited in an autosomal recessive pattern.
Who is at risk for galactosemia?
Genetics from parents will decide whether or not the baby has galactosemia. If both parents have the gene, there is a 25% chance that the child will be born with a disease and a 50% chance that the child will be a carrier for gene defects.
What are the symptoms of galactosemia?
Galactosemia usually shows no symptoms at birth. After a few days or after drinking milk, you may see the emergence of jaundice, diarrhea, vomiting, and babies not also experiencing weight gain. More specifically, the symptoms that occur are:
- Seizures
- Irritation
- Letargi
- It is difficult to eat - babies refuse to eat formula containing milk
- Bad weight
- Yellowing of the skin and white eyes (jaundice)
- Gag.
Children with galactosemia are often given diet galactosemia at birth, but there is still a risk of long-term complications.
- Enlargement of the heart
- Kidney failure
- Cataract in the eye
- Brain damage
- Speech and language difficulties
- Motion and motor skills are delayed
- Learning disability
- Ovarian failure can occur in girls.
What are the complications of galactosemia?
Galactosemia complications can appear:
- Cataract
- Liver cirrhosis
- The development of speech is delayed
- Irregular menstrual periods, reduce ovarian function causing ovarian failure
- Mental disability
- Severe infection with bacteria (E coli sepsis)
- Tremor (shaking) and uncontrolled motor function
- Death (if there is galactose in food).
How is galactosemia diagnosed?
The diagnosis for galactosemia is made usually in the first week of life with a blood test as part of a standard newborn examination.
Tests for checking galactosemia include:
- Blood culture for bacterial infections (E coli sepsis)
- Enzyme activity in red blood cells
- Ketones in urine
- Prenatal diagnosis by directly measuring enzymes galactose-1-phosphate uridyl transferase.
Test results can show:
- Amino acids in urine or blood plasma
- Enlargement of the heart
- Fluid in the stomach
- Low blood sugar
How to treat galactosemia?
To this day, there are no drugs that can treat galactosemia. Treatment requires restrictions on a strict diet of lactose / galactose. People with this condition must avoid all milk, products containing milk (including dried milk), and other foods containing galactose, to live. Read product labels to make sure you or your child with this condition does not eat foods containing galactose.
Parents of infants diagnosed with galactosemia need to use a formula that does not contain galactose. Babies can be fed:
- Soy formula
- Other lactose-free formula milk
- Meat-based formula or nutramigen (formula hydrolyzate protein)
- Recommended calcium supplements.
Even after switching to non-galactose formula milk, your child may still have sepsis if they have ingested galactose food before. Antibiotics are usually used to prevent sepsis in children.
Someone with this condition has never been able to digest food with galactose. However, with medical care and development, most children with galactosemia now live normally.
